Mass screening for neuroblastoma and estimation of costs

On the basis of epidemiological data and medical costs for patients with neuroblastoma, we have calculated the cost of mass screening for neuroblastoma with high performance liquid chromatography (HPLC) compared to the cost when it is not performed. If the sensitivity of the mass screening is 80% and 22,000 infants are screened annually the cost will be 27,809,000 yen ($191,800). If mass is not performed, the cost will be 28,446,000 yen ($196,200). The difference in cost (637,000 yen or $4,400) is fairly small. If the sensitivity is 75% and 16,500 infants are screened, the difference is also small (174,000 yen or $1,200). Therefore, mass screening with the HPLC method will not be an undue financial burden. But re-screening at an older age will be done with less financially favorable results, considering that the sensitivity may not be as high as that of the first screening and that mothers are somewhat reluctant about re-screening. The balance of the cost of mass screening by qualitative methods may also be less favorable, since the detection rate is low.     

Mother's Attitudes towards the Mass Screening of Neuroblastoma

Two hundred and two mothers whose, infants participated in mass screening of neuroblastoma in Sapporo City, and 200 mothers whose infants did not, were interviewed about their attitudes towards the mass screening. Only a few nonparticipants (3.5%) thought the mass screening was unnecessary. More than half of non-participations (56.0%) were due to mothers' forgetfulness or to loss of the "Neuroblastoma Screening Examination Set" during the two months' interval between the delivery of the set and the sample submission. Mailing of the set at six months for the purpose of eliminating this interval would greatly reduce such neglect of the mass screening. On the other hand, not many infants would participate in re-screening for detection of false negative cases, since the percentage of mothers who were willing to make their children take part in rescreening for a fee of 1,000 yen (about 7 U.S. dollars, which would be administratively necessary) was less than 60%. ( Acta Paediatr Jpn 1989; 31: 166–170)     

A cost-effectiveness evaluation of newborn hemoglobinopathy screening from the perspective of state health care systems

Objective: To determine the most cost-effective strategy for newborn hemoglobinopathy screening from the perspective of state health care systems. Study design: Using Alaska as an example, we used decision analysis to compare a policy of no screening to universal or targeted screening with selective follow-up only of infants who are homozygous or compound heterozygous for an abnormal hemoglobin variant and to universal or targeted screening with complete follow-up, including follow-up of infants with clinically insignificant traits. Probabilities and costs were varied over values that might be expected for other states. Results: Among the selective follow-up options, targeted screening would be the most cost-effective strategy for Alaska at a cost of $206 192 per death averted; by contrast, universal screening would prevent 50% more deaths at an incremental cost of $2 040 000 per death averted. Universal would be more cost-effective than targeted screening for several scenarios expected to occur in other states, including a high sickle cell disease prevalence, a low screening test cost, and a high cost per screen associated with racial targeting. Among the complete follow-up options, both targeted and universal screening would cost at least $200 000 per death averted over the range of all variables tested during sensitivity analysis; the incremental cost of universal versus targeted screening would be at least $600 000 per death averted. Conclusions: Our data suggest each state should determine the most cost-effective option based on state-specific values for sickle cell disease prevalence, test costs and racial targeting costs.     

Screening for neuroblastoma at 3 weeks of age: methods and preliminary results from the Quebec Neuroblastoma Screening Project

A large neuroblastoma screening study was recently started in the province of Quebec, Canada. This project, a collaboration between the Quebec Network for Genetic Medicine and the University of Minnesota, is studying the impact of screening infants for the preclinical detection of neuroblastoma on the population-based mortality caused by this tumor. All infants born in Quebec during a 5-year period will be screened twice, at 3 weeks and at 6 months. Urinary homovanillic acid and vanillylmandelic acid determination from dried filter paper samples is used for screening. Initial qualitative screening is done by means of thin-layer chromatography with confirmatory quantitative screening by gas chromatography-mass spectrometry (GC-MS). During the initial 6 months of 3-week screening, 41,673 neonates (92% compliance rate) were screened and 10.6% of them were tested also by GC-MS. Nine of these neonates had positive results on two GC-MS tests and were referred for evaluation to rule out the presence of neuroblastoma. Four had the tumor, 1 had a calcified adrenal gland, and 4 had no tumor detected. Three additional neonates had clinical diagnosis of neuroblastoma before they reached the screening age of 3 weeks. A neuroblastoma that did not secrete homovanillic acid or vanillylmandelic acid was diagnosed clinically in 1 additional patient who tested negative by screening.     

Screening for neuroblastoma: a 9–year birth cohort–based study in Niigata, Japan

Between April 1985 and March 1994 (9 years), 229 346 babies were born in Niigata prefecture, and 201 888 (88.0%) underwent mass screening (MS) for neuroblastoma at 6 months of age. To date, 29 infants have been screen–detected as having neuroblastoma (1 :7908). All screen–detected patients survived after removal of the primary tumor. In the same birth cohort, 17 additional children were clinically diagnosed as having neuroblastoma. The cumulative incidence rate of neuroblastoma at 5 years of age was 10.5 per 100 000 live births in the 5–year birth cohort before MS was introduced, and 18.6 per 100000 in the first 5–year birth cohort after MS was introduced. These values were not statistically different. The birth cohort incidence rate increased significantly to 22.2 per 100000 ( p < 5% compared with before MS) after the method of MS was changed to high–power liquid chromatography (HPLC), even though this latest birth cohort has not been followed for 5 years. The population–based mortality rate from neuroblastoma was 5.9 per 100 000 in the 5–year birth cohort before MS, and 4.5 per 100000 after MS in the first 5–year birth cohort, using the vanillymandelic acid (VMA) spot test. These values were not statistically significant. In contrast, no death was observed in the next 4–year birth cohort after MS using HPLC; however, this birth chohort has not yet been followed for 5 years. Mass screening, neuroblastoma     

Number and cure rate of neuroblastoma cases detected by the mass screening program in Japan: future aspects

The annual incidence of neuroblastoma in Japan, a common malignancy of young children which has a very poor prognosis in progressive cases, was previously estimated to be 8.2 cases/million children under 15 years of age. Based on the Japanese National Census of the Population for 1982, the annual number of cases of this tumor is predicted to be 220. (Sawada et al: Med Pediatr Oncol 12:101-103, 1984). Before the mass screening program was started, one-fourth of all neuroblastoma cases were detected before the age of one by clinical symptoms and other findings. Since 1974, a neuroblastoma mass screening program for 6-month-old infants by means of a qualitative Vanilmandelic Acid (VMA) test has been in effect in Kyoto, Japan, for the prognostic improvement of neuroblastoma patients (Sawada et al: Am J Dis Child 136:710-712, 1982). A Neuroblastoma Mass Screening Study Group (NBMSSG) was organized in 1981 (Sawada et al: Lancet ii:271-272, 1984), and the mass screening program has grown to encompass eight selected areas. This group discovered 15 cases of neuroblastoma among 247,500 6-month-old infants, 1 of every 16,500, until the end of 1983, and 23 cases among 434,970, 1 of every 18,900, until the end of 1984. All cases were asymptomatic. As the incidence of infantile neuroblastoma detected by this program is projected to be 52.9-60.6 cases/million 6-month-old infants, it could be predicted that 80-91 neuroblastoma cases will be discovered annually in Japan by mass screening. The cure rate of 25 cases discovered by the mass screening and followed up over 20 months was 92% (Sawada: Lancet i:377,1986). In Japan, it should be possible to detect 135-146 cases--[symptomatic 55 = 220 X 1/4] + [80-91 cases detected by mass screening]--(61.4-66.4% of the total neuroblastoma cases) in infants under 1 year of age annually, and the cure rate of all neuroblastoma cases in Japan is expected to reach 60% or more.     

Efficiency of alternative policy options for screening for developmental dysplasia of the hip in the United Kingdom

Aims: To assess, using a decision model, the efficiency of ultrasound based and clinical screening strategies for developmental dysplasia of the hip. Methods: The additional cost per additional favourable outcome was compared for the following strategies: clinical screening alone using the Ortolani and Barlow tests; addition of static and dynamic ultrasound examination of the hips of all infants (universal ultrasound) or restricted to infants with defined risk factors (selective ultrasound); "no screening" (that is, clinical diagnosis only). Results: Ultrasound based screening strategies are predicted to be more effective but more costly than clinical screening or no screening. Estimated total costs per 100 000 live births are approximately £4 million for universal ultrasound, £3 million for selective ultrasound, £1 million for clinical screening alone, and £0.4 million for no screening. The relative efficiency of selective ultrasound and clinical screening is poorly differentiated, and depends on how infants are selected for ultrasound as well as the expertise of clinical screening examiners. If training costs less than £20 per child screened, clinical screening alone would be more efficient than selective ultrasound. Relative to no screening, each of the 16 additional favourable outcomes achieved as a result of selective ultrasound costs approximately £0.2 million, while each of the five favourable outcomes achieved through universal ultrasound screening, over and above selective ultrasound, costs approximately £0.3 million. Conclusions: Policy choice depends on values attached to the different outcomes, willingness to pay to achieve these and total budget.     

Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model

BACKGROUND: We undertook a cost-benefit analysis of screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndrome (BWS), a known cancer predisposition syndrome. The purpose of this analysis was twofold: first, to assess whether screening in children with BWS has the potential to be cost-effective; second, if screening appears to be cost-effective, to determine which parameters would be most important to assess if a screening trial were initiated. PROCEDURES: We used data from the BWS registry at the National Cancer Institute, the National Wilms Tumor Study (NWTS), and large published series to model events for two hypothetical cohorts of 1,000 infants born with BWS. One hypothetical cohort was screened for cancer until a predetermined age, representing the base case. The other cohort was unscreened. For our base case, we assumed: (a) sonography examinations three times yearly (triannually) from birth until 7 years of age; (b) screening would result in one stage shift downward at diagnosis for Wilms tumor and hepatoblastoma; (c) 100% sensitivity and 95% specificity for detecting clinical stage I Wilms tumor and hepatoblastoma; (d) a 3% discount rate; (e) a false positive result cost of $402. We estimated mortality rates based on published Wilms tumor and hepatoblastoma stage specific survival. RESULTS: Using the base case, screening a child with BWS from birth until 4 years of age results in a cost per life year saved of $9,642 while continuing until 7 years of age results in a cost per life-year saved of $14,740. When variables such as cost of screening examination, discount rate, and effectiveness of screening were varied based on high and low estimates, the incremental cost per life-year saved for screening up until age four remained comparable to acceptable population based cancer screening ranges (< $50,000 per life year saved). CONCLUSIONS: Under our model's assumptions, abdominal sonography examinations in children with BWS represent a reasonable strategy for a cancer screening program. A cancer screening trial is warranted to determine if, when, and how often children with BWS should be screened and to determine cost-effectiveness in clinical practice.     

The "Lower Saxony/Northern Rhine-Westphalia" Neuroblastoma Screening Project: on the need for epidemiologic comparison]

The proof for the general evolution of metastatic neuroblastoma from localized disease by a low-speed process is lacking. The epidemiological approach would require the decrease of neuroblastoma related mortality by reduction of the number of metastatic cases per population unit as a result of a screening program. During 1983 through 1990 the neuroblastoma incidence in the FRG was 0.85-1.09 cases per 100,000 children less than 15 years of age. The mortality rate ranged between 0.25 and 0.49 deaths per 100,000 children. The project "Niedersachsen/Nordrhein-Westfalen" started April 1st, 1992 and is investigating urinary catecholamine metabolite excretion in infants at the age of 10-12 months and for a second time in toddlers at 17-19 months. The target population includes 24.7 million inhabitants with 267,000 births per year. The urine sampled on filter paper is analyzed using thin layer chromatography. Positive and questionable positive results are confirmed by HPLC and GC-MS. The aim of the study is to demonstrate the feasibility of the chosen approach. Furthermore first epidemiological data will be obtained. Until a population-based study on neuroblastoma mortality in screened versus controlled populations has proven the usefulness of the screening it cannot be recommended as a general service to the public.     

Neuroblastoma detected by mass screening: the Tumor Board’s role in its treatment

Japan has a nationwide mass-screening program for neuroblastoma in 6-month-old infants. Neuroblastoma can regress spontaneously, and some institutions observe selected cases. We evaluated the management of screened neuroblastoma at our hospital since 1997 when an observation program was introduced. Criteria for the observation program were stage-I, stage-II, or stage-IVs tumors, urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels <40 g/mg creatinine, tumor <5 cm in diameter, no invasion to the intraspinal canal or great vessels, and parental consent to participate. Patients who did not meet observation criteria underwent surgery or mild chemotherapy according to the location of the tumor. If patients met observation criteria after chemotherapy, surgical intervention was no longer performed. Thirty-six patients attended our hospital for screened neuroblastoma from 1997 to 2002. Thirty-three patients who were managed at our hospital participated in this study. Ten subjects met observation criteria. Tumors regressed in 7 patients (mean follow-up period 36.3 months) with corresponding decreases in VMA and HVA levels (group A). Three underwent surgery (group B) because of increasing VMA and HVA levels, increase in tumor size, or guardians request. Twenty-three subjects did not meet observation criteria. Four patients underwent primary surgery (group C), and 19 patients had chemotherapy initially. Fourteen patients met observation criteria after chemotherapy and two are still having chemotherapy (group D). Three patients required surgery due to insufficient regression of their tumors (group E). Fourteen subjects in group D had marked decreases in VMA and HVA levels and tumor size (mean follow-up period 29.1 months), and tumors were not detected using imaging techniques in 8 patients. Histological examination of all resected specimens during the study period showed favorable histology and no N-myc amplification. There was no evidence of unfavorable prognosis in any of the 33 subjects, although 1 patient who underwent primary surgery had a vanishing kidney 1 year later and 1 patient had multiple bony metastases after complete resection of tumor, which was treated by chemotherapy. Until the real significance of mass screening for neuroblastoma as a public health measure is confirmed, observation with careful follow-up should be adopted more extensively because it has a favorable outcome in many cases, and is associated with minimal therapeutic complications.     

Cost-effectiveness analysis of palivizumab in premature infants without chronic lung disease

OBJECTIVES: To evaluate the cost-effectiveness of palivizumab as respiratory syncytial virus prophylaxis in premature infants without chronic lung disease and to evaluate the impact on cost-effectiveness of a potential reduction in risk of asthma following respiratory syncytial virus infection among infants receiving palivizumab. DESIGN: Two decision analytic models were designed, one with and the other without accounting for increased risk of asthma following respiratory syncytial virus infection. SETTING: A hypothetical community or university hospital. PARTICIPANTS: Hypothetical cohorts of infants without chronic lung disease born at 26 to 32 weeks' gestation. INTERVENTIONS: Palivizumab prophylaxis vs no prophylaxis. MAIN OUTCOME MEASURES: Expected costs and incremental cost-effectiveness ratio expressed as cost per quality-adjusted life-year. RESULTS: The expected costs were higher for palivizumab prophylaxis as compared with no prophylaxis. The incremental cost-effectiveness ratios were high for all gestations and are not considered cost-effective by today's standards (<$200 000 per quality-adjusted life-year). Both models were sensitive to variation in the cost of palivizumab. The model that included asthma was sensitive to variation in quality of life for children with asthma. In instances where asthma was considered severe with profound worsening in quality of life compared with life without asthma, some infants had an incremental cost per quality-adjusted life-year that was less than $200 000. CONCLUSIONS: Our model supports implementing more restrictive guidelines for palivizumab prophylaxis. Palivizumab was cost-effective for some infants in an analysis that accounted for increased risk of severe asthma following respiratory syncytial virus infection.     

Screening Infants For Neuroblastoma: The Parents' Perspective

Health visitors collected urine samples from 6-month-old infants in a feasibility study of infant screening for neuroblastoma. As part of the project's evaluation, a study was conducted of the parents' views and experiences of screening. Parents of the most recently screened infants were contacted: 85 (68% of those contacted) were interviewed. Despite intermittent media coverage and written and verbal information being available, parents' overall knowledge of neuroblastoma screening was poor. Thirteen percent reported that they did not know the purpose of the test. Approximately one-third of parents reported initial anxiety about the test. Where samples were repeated because of unsatisfactory results, this percentage increased to 41% for a first-repeat sample. Parents were willing to make considerable effort to provide samples for screening but worried unnecessarily because the information they were given was either inadequate or in an inappropriate format (ie, verbal instead of written).     

Mass screening in Japan increased the detection of infants with neuroblastoma without a decrease in cases in older children

Analysis of data from the Kanto-Ko-Shin-Etsu Branch of the Japan Children's Cancer Registry revealed that mass screening for neuroblastoma increased the detection of cases in infants younger than 1 year from about 25% before screening to about 50%, and the percentage of neuroblastomas among all pediatric cancers almost doubled, from approximately 10% to 19.3%. However, when the cases found on screening were subtracted, the numbers after the onset of mass screening were similar to those before screening. It is likely that neuroblastoma mass screening has identified a unique type of tumor, which may not be recognized without mass screening, rather than that it has contributed to the earlier diagnosis of tumors in older children.     

Comparison of the incidences of neuroblastoma for screened and unscreened cohorts

The incidences of neuroblastoma in screened cohorts and unscreened cohorts were compared to evaluate the usefulness of neuroblastoma mass screening. Data for screened and unscreened populations were collected from annual reports from the Neuroblastoma Committee and the number of cases of neuroblastoma with information on the screening history was provided by the Japan Children's Cancer Registry, whose registration rate has been estimated to be 0.71. In the age category of 6-11 months, the ratios of incidences per 10(6) person-years for unscreened to screened cohorts were 6.58 [95% confidence intervals (CI) 4.51-9.60] during the early period, 1985-1989, and 11.15 (95% CI 7.65-16.25) during the later period, 1990-1994. However, they were 0.67 (95% CI 0.31-1.44) and 0.81 (95% CI 0.33-2.03) for the age categories of 1-4 y and 2-4 y during the early period and 1.32 (95% CI 0.63-2.76) and 1.17 (95% CI 0.48-2.89) for the age categories of 1-4 y and 2-4 y, respectively. The incidences of neuroblastoma per 10(6) person-years were not different among screened and unscreened cohorts. Neuroblastoma mass screening has not contributed to any decrease in the incidence of neuroblastoma in children over 1 y of age.     

Costing model for neonatal screening and diagnosis of haemoglobinopathies

AIM: To compare the costs and cost effectiveness of universal and targeted screening for the haemoglobinopathies; to compare the cost of two laboratory methods; and to estimate the cost effectiveness of programmes at different levels of prevalence and mix of haemoglobinopathy traits. METHODS: A retrospective review of laboratory and follow up records to establish workload and costs, and estimation of costs in a range of circumstances was made in a haematology department and sickle cell and thalassaemia centre, providing antenatal and neonatal screening programmes in Inner London. The costs for 47,948 babies, screened during 1994, of whom 25 had clinically significant haemoglobinopathies and 704 had haemoglobinopathy traits, were retrospectively assessed. RESULTS: The average cost per baby tested (isoelectric focusing and high power liquid chromatography) was 3.51 Pounds /3.83 Pounds respectively; the cost per case of sickle cell disease identified (IEF/HPLC) was 6738 Pounds /7355 Pounds; the cost per trait identified (IEF/HPLC) was 234 Pounds /255 Pounds; the cost per extra case of SCD and trait identified by universal programme varied. CONCLUSIONS: IEF and HPLC are very similar in terms of average cost per test. At 16 traits/1000 and 0.5 SCD/1000 there was no significant identification cost difference between universal and targeted programmes. Below this prevalence, a targeted programme is cheaper but likely to miss cases of SCD. If targeted programmes were 90-99% effective, universal programmes would cease to be good value except at very high prevalence. Greater use of prenatal diagnosis, resulting in termination, and therefore fewer affected births, reduces the cost effectiveness of universal screening. Screening services should aim to cover a screened population which will generate a workload over 25,000 births a year, and preferably over 40,000.     

Screening Infants For Neuroblastoma: The Parents' Perspective

Health visitors collected urine samples from 6–month-old infants in a feasibility study of infant screening for neuroblastoma. As part of the project's evaluation, a study was conducted of the parents' views and experiences of screening. Parents of the most recently screened infants were contacted: 85 (68% of those contacted) were interviewed. Despite intermittent media coverage and written and verbal information being available, parents' overall knowledge of neuroblastoma screening was poor. Thirteen percent reported that they did not know the purpose of the test. Approximately one-third of parents reported initial anxiety about the test. Where samples were repeated because of unsatisfactory results, this percentage increased to 41% for a first-repeat sample. Parents were willing to make considerable effort to provide samples for screening but worried unnecessarily because the information they were given was either inadequate or in an inappropriate format (ie, verbal instead of written).     

Early identification of hearing loss and centralized newborn hearing screening facility-the Cochin experience

Significant hearing loss is one of the most common major abnormalities present at birth. If undetected, it will impede speech, language and cognitive development. Significant bilateral hearing loss is present in 1 to 3 per 1000 new born infants in the well-baby nursery population and in 2 to 4 per 100 infants in the intensive care unit population. It is an established fact that if hearing loss is present it should be detected and remediated before the baby is 6 months old. Neither universal screening nor a high risk screening, exists in majority of the hospitals in our country. In such a situation, a centralized facility catering to all hospitals in the city is a practical option. A two-stage screening protocol is projected, in which infants are screened first with otoacoustic emissions (OAE). Infants who fail the OAE are screened with auditory brainstem response (ABR). This two tier screening program (the second tier being ABR, which is more expensive) is required only for a selected few, making the program more practical and viable. It is the practicability of this program that makes it relevant for replication in other cities of the country, making it a model screening program for any developing country.     

False-positive results in neuroblastoma screening: the parents' view

PURPOSE: One of the major problems of any screening program is the occurrence of false-positive results. For neuroblastoma screening, little information is available on the psychological consequences for parents whose children had false-positive results that made further clinical evaluation necessary. It was the aim of this study to evaluate the parents' view by a semistructured interview. PATIENTS AND METHODS: Among 267,302 infants screened in the Austrian study between 1991 and 1999, 19 had to be considered as repeatedly false-positive (no clinical evidence of neuroblastoma). Sixteen of 19 parent pairs could be reached by phone and were interviewed separately by use of a semistructured questionnaire to evaluate for psychological consequences resulting from the screening result. RESULTS: The psychological burden appeared to be small during the initial screening procedure, but it increased significantly through hospital admission and was then described as severe by 19 of the 32 parents. CONCLUSIONS: Investigators should be aware of the psychological consequences of hospital admission for tumor screening in children. In ongoing neuroblastoma screening studies, laboratory methods as well as cutoff limits should be selected carefully.     

Evidence for changing guidelines for routine screening for retinopathy of prematurity

CONTEXT: Existing guidelines recommended by the Canadian Pediatric Society (CPS) and American Academy of Pediatrics (AAP) for routine screening for retinopathy of prematurity (ROP) remain controversial. OBJECTIVE: To determine whether current guidelines for routine screening for ROP should be changed. DESIGN: We examined data that were collected as part of a larger study of 14 neonatal intensive care units (NICUs) in Canada. We examined the effect of strategies using different birth weight (BW) and gestational age (GA) criteria for routine ROP screening, and performed a cost-effectiveness analysis. SETTING: The 14 NICUs (except one) are regional tertiary level referral centres serving geographic regions of Canada, and include approximately 60% of all tertiary-level NICU beds in Canada. PATIENTS: This large cohort included all 16 424 infants admitted to 14 Canadian NICUs from January 8, 1996, to October 31, 1997. INTERVENTIONS: None. MAIN OUTCOME MEASURE: Treatment for ROP. RESULTS: The most cost-effective strategy was to routinely screen only infants having a BW of 1200 g or less. This included all infants treated for ROP (except 1 outlier at 32 weeks GA and 1785 g BW), at a marginal cost per additional person with improved vision of $513 081 for screening patients between 28 weeks GA and 1200 g BW, compared with $1 800 039 and $2 075 874 for using the current AAP and CPS guidelines, respectively (cryotherapy outcomes). Results for laser therapy were similar, but costs were slightly lower. This strategy reduced the number of infants screened under the current CPS guidelines by 46%. CONCLUSION: Screening only infants having a BW of 1200 g or less is the most cost-effective strategy for routine ROP screening.     

Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel

OBJECTIVE: To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organic acidemia disorders in the Wisconsin Newborn Screening Program. STUDY DESIGN: An incremental cost-effectiveness analysis with a hypothetical cohort of 100,000 infants was performed. A threshold of $50,000/QALY (quality-adjusted life-year) was used to determine whether screening for medium-chain acyl-CoA dehydrogenase deficiency (MCAD) alone is cost-effective or whether additional disorders would need to be incorporated into the analysis to arrive at a conclusion regarding the overall cost-effectiveness of MS/MS. RESULTS: Under conservative assumptions, screening for MCAD alone yields an incremental cost-effectiveness ratio of $41,862/QALY. With the use of more realistic assumptions, screening becomes more cost-effective ($6008/QALY) and remains cost-effective so long as the incremental cost of screening remains under $13.05 per test. Adding the incremental costs of detecting the 13 other disorders on the screening panel still yields a result well within accepted norms for cost-effectiveness ($15,252/QALY). CONCLUSIONS: In Wisconsin, MS/MS screening for MCAD alone appears to be cost-effective. Future analyses should examine the cost-effectiveness of alternative follow-up and treatment regimens for MCAD and other panel disorders.